Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Steap2'

377865

Institutional Source

Beutler Lab

Gene Symbol

Steap2

Ensembl Gene

ENSMUSG00000015653

Gene Name

six transmembrane epithelial antigen of prostate 2

Synonyms

4921538B17Rik

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5714829-5744578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5725866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 386 (N386S)

Ref Sequence

ENSEMBL: ENSMUSP00000132501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015797] [ENSMUST00000115424] [ENSMUST00000115425] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000148333] [ENSMUST00000164219]

AlphaFold

Q8BWB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015797
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015797
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	8.9e-19	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	405	2.8e-16	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115424
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111084
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115425
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111085
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115426
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115427
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	2.3e-17	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	401	1.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148333
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116910
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	8.3e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	2.7e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149412

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164219
AA Change: N386S

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
AA Change: N386S

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	31	118	4e-18	PFAM
transmembrane domain	209	231	N/A	INTRINSIC
Pfam:Ferric_reduct	258	406	1.5e-22	PFAM
transmembrane domain	431	453	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150238

Meta Mutation Damage Score

0.1138

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	possibly damaging	Het

Other mutations in Steap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Steap2	APN	5	5,723,586 (GRCm39)	missense	probably damaging	0.99
IGL02272:Steap2	APN	5	5,727,612 (GRCm39)	missense	probably benign	0.10
IGL02680:Steap2	APN	5	5,723,474 (GRCm39)	missense	probably benign	0.00
R0267:Steap2	UTSW	5	5,723,561 (GRCm39)	missense	probably benign	0.00
R1670:Steap2	UTSW	5	5,727,393 (GRCm39)	missense	possibly damaging	0.80
R2175:Steap2	UTSW	5	5,723,501 (GRCm39)	missense	probably damaging	1.00
R2188:Steap2	UTSW	5	5,723,643 (GRCm39)	nonsense	probably null
R2374:Steap2	UTSW	5	5,725,845 (GRCm39)	missense	probably damaging	0.99
R4941:Steap2	UTSW	5	5,727,651 (GRCm39)	missense	probably damaging	1.00
R5012:Steap2	UTSW	5	5,727,784 (GRCm39)	missense	possibly damaging	0.48
R5555:Steap2	UTSW	5	5,727,544 (GRCm39)	missense	possibly damaging	0.89
R5571:Steap2	UTSW	5	5,725,912 (GRCm39)	missense	probably damaging	1.00
R5666:Steap2	UTSW	5	5,723,681 (GRCm39)	missense	probably benign	0.00
R5670:Steap2	UTSW	5	5,723,681 (GRCm39)	missense	probably benign	0.00
R5677:Steap2	UTSW	5	5,727,497 (GRCm39)	nonsense	probably null
R6101:Steap2	UTSW	5	5,725,891 (GRCm39)	missense	possibly damaging	0.71
R6105:Steap2	UTSW	5	5,725,891 (GRCm39)	missense	possibly damaging	0.71
R6190:Steap2	UTSW	5	5,725,881 (GRCm39)	missense	probably damaging	1.00
R7172:Steap2	UTSW	5	5,732,896 (GRCm39)	missense	possibly damaging	0.52
R7576:Steap2	UTSW	5	5,727,406 (GRCm39)	missense	probably benign	0.01
R7706:Steap2	UTSW	5	5,732,967 (GRCm39)	missense	possibly damaging	0.95
R8747:Steap2	UTSW	5	5,723,539 (GRCm39)	missense	probably benign	0.36
R9020:Steap2	UTSW	5	5,723,480 (GRCm39)	missense	probably benign	0.00
R9040:Steap2	UTSW	5	5,732,722 (GRCm39)	missense	probably benign
R9113:Steap2	UTSW	5	5,727,475 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTAATGATGTACTGGCCTTTCAC -3'
(R):5'- GTGCAGAGTCAGCGAACATTC -3'

Sequencing Primer
(F):5'- CACTTACTAAACTGGCCTTTAGGTAC -3'
(R):5'- GTCAGCGAACATTCTACCGAGTAG -3'

Posted On

2016-04-15